MCID: LCY001
MIFTS: 22

Lucey-Driscoll Syndrome malady

Genetic diseases, Rare diseases, Liver diseases categories

Summaries for Lucey-Driscoll Syndrome

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Sources:
44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Lucey-driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. it occurs when the body does not properly break down (metabolize) a certain form of bilirubin.  if untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death. treatment for lucey-driscoll syndrome includes phototherapy with blue light (to treat the high level of bilirubin in the blood) and an exchange transfusion is sometimes necessary. different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition. last updated: 11/15/2010

MalaCards: Lucey-Driscoll Syndrome, also known as transient familial neonatal hyperbilirubinemia, is related to gilbert syndrome and hyperbilirubinemia transient familial neonatal. An important gene associated with Lucey-Driscoll Syndrome is UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1). Affiliated tissues include skin, eye and liver.

Description from OMIM:48 237900

Aliases & Classifications for Lucey-Driscoll Syndrome

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Sources:
44NIH Rare Diseases, 23GTR, 50Orphanet, 63UMLS, 21GeneTests, 48OMIM, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases
Orphanet: 50 
Rare hepatic diseases


Aliases & Descriptions:

lucey-driscoll syndrome 44 23 50 63
transient familial neonatal hyperbilirubinemia 44 21 50
hyperbilirubinemia, familial transient neonatal 48
transient familial hyperbilirubinemia 44


External Ids:

OMIM48 237900
ICD10 via Orphanet27 P59.3, P59.8

Related Diseases for Lucey-Driscoll Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Lucey-Driscoll Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gilbert syndrome10.3
2hyperbilirubinemia transient familial neonatal10.3

Symptoms for Lucey-Driscoll Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

237900

Clinical features from OMIM:

237900

Drugs & Therapeutics for Lucey-Driscoll Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Lucey-Driscoll Syndrome

Drug clinical trials:

Search ClinicalTrials for Lucey-Driscoll Syndrome

Search NIH Clinical Center for Lucey-Driscoll Syndrome

Search CenterWatch for Lucey-Driscoll Syndrome

Genetic Tests for Lucey-Driscoll Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Lucey-Driscoll Syndrome:

id Genetic test Affiliating Genes
1 Transient Familial Neonatal Hyperbilirubinemia21 UGT1A1
2 Lucey-Driscoll Syndrome23

Anatomical Context for Lucey-Driscoll Syndrome

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34MalaCards
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MalaCards organs/tissues related to Lucey-Driscoll Syndrome:

34
Skin, Eye, Liver

Animal Models for Lucey-Driscoll Syndrome or affiliated genes

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Publications for Lucey-Driscoll Syndrome

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Variations for Lucey-Driscoll Syndrome

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Lucey-Driscoll Syndrome:

65
id Symbol AA change Variation ID SNP ID
1UGT1A1p.Tyr486AspVAR_007709
2UGT1A1p.Gly71ArgVAR_009504rs4148323

Clinvar genetic disease variations for Lucey-Driscoll Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1UGT1A1*28duplicationPathogenic, associationrs34983651GRCh37Chr 2, 234668880: 234668893
2NM_000463.2(UGT1A1): c.211G> A (p.Gly71Arg)single nucleotide variantPathogenic, associationrs4148323GRCh37Chr 2, 234669144: 234669144
3NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp)single nucleotide variantPathogenicrs34993780GRCh37Chr 2, 234681059: 234681059
4NM_000463.2(UGT1A1): c.-1352A=single nucleotide variantPathogenicrs3755319GRCh37Chr 2, 234667582: 234667582

Expression for genes affiliated with Lucey-Driscoll Syndrome

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lucey-Driscoll Syndrome

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Pathways for genes affiliated with Lucey-Driscoll Syndrome

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Compounds for genes affiliated with Lucey-Driscoll Syndrome

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GO Terms for genes affiliated with Lucey-Driscoll Syndrome

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Products for genes affiliated with Lucey-Driscoll Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lucey-Driscoll Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet